VAMP7 (vesicle associated membrane protein 7)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6845 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Vesicle associated membrane protein 7 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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VAMP7 |
SynonymsGene synonyms aliases
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SYBL1, TI-VAMP, TIVAMP, VAMP-7 |
ChromosomeChromosome number
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X|Y |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq28 and Yq12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transpor |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P51809 |
Protein name |
Vesicle-associated membrane protein 7 (VAMP-7) (Synaptobrevin-like protein 1) (Tetanus-insensitive VAMP) (Ti-VAMP) |
Protein function |
Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal |
PDB |
2DMW
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13774 |
Longin |
29 → 108 |
Regulated-SNARE-like domain |
Domain |
PF00957 |
Synaptobrevin |
122 → 210 |
Synaptobrevin |
Family |
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Sequence |
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Sequence length |
220 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
46, xy partial gonadal dysgenesis |
46,XY partial gonadal dysgenesis |
rs193922688 |
24880616 |
Azoospermia |
Azoospermia |
rs200969445, rs144567652, rs765353898 |
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Carcinoma of the head and neck |
Squamous cell carcinoma of the head and neck |
rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075 |
23358896 |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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Nephroblastoma |
Nephroblastoma |
rs1553551874, rs1555913934, rs769116796 |
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Nephrotic syndrome |
Nephrotic Syndrome |
rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 |
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Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Ambiguous genitalia |
Ambiguous Genitalia |
rs782562963 |
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Gonadal dysgenesis |
Gonadal Dysgenesis |
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Gynecomastia |
Gynecomastia |
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Hypertrophy of clitoris |
Hypertrophy of clitoris |
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Hypogonadism |
Primary hypogonadism |
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Hypoplasia of vagina |
Hypoplasia of vagina |
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Hypospadias |
Hypospadias |
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Ovarian gonadoblastoma |
Ovarian gonadoblastoma |
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Penis agenesis |
Penis agenesis |
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Physiologic amenorrhea |
Primary physiologic amenorrhea |
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Streak ovary |
Streak ovary |
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Testicular gonadoblastoma |
Testicular gonadoblastoma |
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Testicular regression syndrome |
Testicular regression syndrome |
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